Literature DB >> 33098288

22q11.2 deletion syndrome and schizophrenia.

Xianzheng Qin1, Jiang Chen2, Tian Zhou3.   

Abstract

22q11.2 deletion is a common microdeletion that causes an array of developmental defects including 22q11.2 deletion syndrome (22q11DS) or DiGeorge syndrome and velocardiofacial syndrome. About 30% of patients with 22q11.2 deletion develop schizophrenia. Mice with deletion of the ortholog region in mouse chromosome 16qA13 exhibit schizophrenia-like abnormal behaviors. It is suggested that the genes deleted in 22q11DS are involved in the pathogenesis of schizophrenia. Among these genes, COMT, ZDHHC8, DGCR8, and PRODH have been identified as schizophrenia susceptibility genes. And DGCR2 is also found to be associated with schizophrenia. In this review, we focused on these five genes and reviewed their functions in the brain and the potential pathophysiological mechanisms in schizophrenia, which will give us a deeper understanding of the pathology of schizophrenia.
© The Author(s) 2020. Published by Oxford University Press on behalf of the Institute of Biochemistry and Cell Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Entities:  

Keywords:  zzm321990 COMTzzm321990 ; zzm321990 DGCR2zzm321990 ; zzm321990 PRODHzzm321990 ; 22q11DS; schizophrenia

Mesh:

Substances:

Year:  2020        PMID: 33098288     DOI: 10.1093/abbs/gmaa113

Source DB:  PubMed          Journal:  Acta Biochim Biophys Sin (Shanghai)        ISSN: 1672-9145            Impact factor:   3.848


  6 in total

1.  PTMs: A Missing Piece for Schizophrenia Studies.

Authors:  Caroline Brandão-Teles; Bradley J Smith; Victor Corasolla Carregari
Journal:  Adv Exp Med Biol       Date:  2022       Impact factor: 3.650

Review 2.  Advantages and Limitations of Animal Schizophrenia Models.

Authors:  Magdalena Białoń; Agnieszka Wąsik
Journal:  Int J Mol Sci       Date:  2022-05-25       Impact factor: 6.208

3.  Dopaminergic neurons in chromosome 22q11.2 deletion syndrome.

Authors:  Haruhisa Inoue
Journal:  EBioMedicine       Date:  2021-01-05       Impact factor: 8.143

4.  Utility of Measuring Fetal Cavum Septum Pellucidum (CSP) Width During Routine Obstetrical Ultrasound for Improving Diagnosis of 22q11.2 Deletion Syndrome: A Case-Control Study.

Authors:  Christy L Pylypjuk; Shiza F Memon; Bernard N Chodirker
Journal:  Appl Clin Genet       Date:  2022-07-26

Review 5.  Roles and mechanisms of ankyrin-G in neuropsychiatric disorders.

Authors:  Sehyoun Yoon; Nicolas H Piguel; Peter Penzes
Journal:  Exp Mol Med       Date:  2022-07-06       Impact factor: 12.153

6.  Case Report: Autoimmune Psychosis in Chromosome 22q11.2 Deletion Syndrome.

Authors:  Nicolás Lundahl Ciano-Petersen; Omar Hamad-Cueto; Hania Drissi-Reyes; Álvaro Doña-Díaz; Guillermina García-Martín
Journal:  Front Immunol       Date:  2021-10-14       Impact factor: 7.561

  6 in total

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